ClinVar Miner

List of variants in gene VWA3B reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_144992.5(VWA3B):c.544G>A (p.Val182Ile) rs367870902 0.00053
NM_144992.5(VWA3B):c.2243A>G (p.Asn748Ser) rs1037456370 0.00001
NM_144992.5(VWA3B):c.2951A>C (p.Glu984Ala)
NM_144992.5(VWA3B):c.3068C>G (p.Pro1023Arg) rs779799210

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